Variant report

Variant	nsv895099
Chromosome Location	chr10:44878114-44884959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:44882107-44882307	HepG2	liver:	n/a	n/a
2	ATF3	chr10:44882112-44882269	K562	blood:	n/a	n/a
3	BACH1	chr10:44879399-44880089	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr10:44882052-44882506	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr10:44881774-44881807	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr10:44880796-44881429	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr10:44881995-44882274	GM12878	blood:	n/a	n/a
8	BHLHE40	chr10:44882094-44882278	K562	blood:	n/a	chr10:44882150-44882166
9	BRCA1	chr10:44882054-44882214	HepG2	liver:	n/a	n/a
10	CCNT2	chr10:44882111-44882345	K562	blood:	n/a	n/a
11	CEBPB	chr10:44882105-44882260	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:44882112-44882349	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr10:44882134-44882409	K562	blood:	n/a	n/a
14	CEBPB	chr10:44882081-44882254	HepG2	liver:	n/a	n/a
15	CHD2	chr10:44882077-44882239	HepG2	liver:	n/a	n/a
16	CREB1	chr10:44879975-44880721	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr10:44877649-44880413	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr10:44882086-44882642	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:44882140-44882290	AG10803	skin:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
20	CTCF	chr10:44881998-44882504	IMR90	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
21	CTCF	chr10:44882044-44882338	GM12892	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
22	CTCF	chr10:44882461-44882584	GM20000	blood:	n/a	n/a
23	CTCF	chr10:44882120-44882270	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
24	CTCF	chr10:44882160-44882310	AG04450	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
25	CTCF	chr10:44882120-44882270	SK-N-SH_RA	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
26	CTCF	chr10:44882140-44882290	NB4	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
27	CTCF	chr10:44882057-44882290	ECC-1	luminal epithelium:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
28	CTCF	chr10:44882056-44882320	Gliobla	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
29	CTCF	chr10:44882080-44882230	HVMF	connective:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
30	CTCF	chr10:44882061-44882325	GM10266	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
31	CTCF	chr10:44882120-44882270	AG09319	gingival:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
32	CTCF	chr10:44879660-44879810	AG04449	skin:	n/a	n/a
33	CTCF	chr10:44879660-44879810	BJ	skin:	n/a	n/a
34	CTCF	chr10:44882047-44882329	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
35	CTCF	chr10:44882079-44882292	GM20000	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
36	CTCF	chr10:44882160-44882310	BJ	skin:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
37	CTCF	chr10:44882074-44882298	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
38	CTCF	chr10:44882120-44882270	GM12869	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
39	CTCF	chr10:44882069-44882305	A549	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
40	CTCF	chr10:44882039-44882268	SK-N-SH_RA	brain:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
41	CTCF	chr10:44882020-44882170	WI-38	lung:	n/a	n/a
42	CTCF	chr10:44882560-44882710	HFF	foreskin:	n/a	n/a
43	CTCF	chr10:44882160-44882310	K562	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
44	CTCF	chr10:44882041-44882461	MCF-7	breast:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
45	CTCF	chr10:44882017-44882651	A549	lung:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
46	CTCF	chr10:44882445-44882447	GM10248	blood:	n/a	n/a
47	CTCF	chr10:44882160-44882310	HBMEC	blood vessel:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
48	CTCF	chr10:44882120-44882270	HepG2	liver:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
49	CTCF	chr10:44882120-44882270	GM12873	blood:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190
50	CTCF	chr10:44882028-44882390	HCT-116	colon:	n/a	chr10:44882177-44882190 chr10:44882177-44882190 chr10:44882176-44882192 chr10:44882175-44882193 chr10:44882178-44882188 chr10:44882170-44882191 chr10:44882181-44882190

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:44880730-44880780	NHBE	bronchial:	n/a
2	chr10:44880730-44880780	NT2-D1	testis:	n/a
3	chr10:44880730-44880780	NHBE	bronchial:	n/a
4	chr10:44880730-44880780	NT2-D1	testis:	n/a
5	chr10:44880545-44880595	RPTEC	kidney:	n/a
6	chr10:44882599-44882649	HEEpiC	esophagus:	n/a
7	chr10:44878373-44878423	HUVEC	blood vessel:	n/a
8	chr10:44880545-44880595	ProgFib	skin:	n/a
9	chr10:44880128-44880178	PANC-1	pancreas:	n/a
10	chr10:44880708-44880758	HUVEC	blood vessel:	n/a
11	chr10:44880542-44880592	HRE	kidney:	n/a
12	chr10:44881750-44881800	HEK293	kidney:	embryo
13	chr10:44882340-44882390	GM12891	blood:	n/a
14	chr10:44880819-44880869	HPAEpiC	pulmonary alveolar:	n/a
15	chr10:44882340-44882390	HCPEpiC	choroid plexus:	n/a
16	chr10:44878373-44878423	HCT-116	colon:	n/a
17	chr10:44882135-44882185	Hela-S3	cervix:	n/a
18	chr10:44880708-44880758	ProgFib	skin:	n/a
19	chr10:44881054-44881104	AG04450	lung:	fetal
20	chr10:44881551-44881601	NH-A	brain:	n/a
21	chr10:44882340-44882390	ovcar-3	ovarian:	n/a
22	chr10:44882135-44882185	MCF10A-Er-Src	breast:	n/a
23	chr10:44882599-44882649	A549	lung:	n/a
24	chr10:44880562-44880612	AG04449	skin:	fetal
25	chr10:44881934-44881984	Caco-2	colon:	n/a
26	chr10:44880708-44880758	NH-A	brain:	n/a
27	chr10:44880545-44880595	HPAEpiC	pulmonary alveolar:	n/a
28	chr10:44880559-44880609	HCT-116	colon:	n/a
29	chr10:44882599-44882649	NB4	blood:	n/a
30	chr10:44880559-44880609	SK-N-SH	brain:	n/a
31	chr10:44880559-44880609	SKMC	muscle:	n/a
32	chr10:44878373-44878423	SAEC	small airway:	n/a
33	chr10:44882340-44882390	HEEpiC	esophagus:	n/a
34	chr10:44880559-44880609	AG04450	lung:	fetal
35	chr10:44881551-44881601	NHDF-neo	bronchial:	n/a
36	chr10:44880562-44880612	K562	blood:	n/a
37	chr10:44882340-44882390	SK-N-SH	brain:	n/a
38	chr10:44880819-44880869	HNPCEpiC	eye:	n/a
39	chr10:44882599-44882649	HRCEpiC	kidney:	n/a
40	chr10:44882135-44882185	ECC-1	luminal epithelium:	n/a
41	chr10:44880542-44880592	HRCEpiC	kidney:	n/a
42	chr10:44882135-44882185	SK-N-SH_RA	brain:	n/a
43	chr10:44881054-44881104	AG09309	skin:	n/a
44	chr10:44882340-44882390	RPTEC	kidney:	n/a
45	chr10:44880819-44880869	T-47D	breast:	n/a
46	chr10:44882340-44882390	HRCEpiC	kidney:	n/a
47	chr10:44879465-44879515	T-47D	breast:	n/a
48	chr10:44882599-44882649	NHDF-neo	bronchial:	n/a
49	chr10:44882340-44882390	SKMC	muscle:	n/a
50	chr10:44881551-44881601	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44882608..44885734-chr10:44887032..44891125,3	MCF-7	breast:
2	chr10:44779480..44780239-chr10:44881943..44882604,2	K562	blood:
3	chr10:44166808..44167608-chr10:44882043..44882606,2	MCF-7	breast:

Variant related genes	Relation type
CXCL12	TF binding region
CXCL12	CpG island

Extended variants
information (count: 275 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17879548	chr10:44878114-44878115	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541990773	chr10:44878123-44878124	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548878663	chr10:44878137-44878138	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149407406	chr10:44878140-44878141	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144479475	chr10:44878174-44878175	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559013489	chr10:44878185-44878186	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570904958	chr10:44878250-44878251	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17883967	chr10:44878306-44878307	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556774282	chr10:44878310-44878311	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs180757557	chr10:44878333-44878334	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79947051	chr10:44878342-44878343	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554412759	chr10:44878370-44878371	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17880066	chr10:44878388-44878389	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561772810	chr10:44878399-44878400	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530207205	chr10:44878419-44878420	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376588242	chr10:44878445-44878446	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543502598	chr10:44878457-44878458	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539800318	chr10:44878464-44878465	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543739084	chr10:44878478-44878479	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202232745	chr10:44878480-44878481	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373718815	chr10:44878540-44878541	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564895290	chr10:44878563-44878564	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184228723	chr10:44878571-44878572	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544280069	chr10:44878574-44878575	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368015684	chr10:44878586-44878587	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563103278	chr10:44878598-44878599	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563448959	chr10:44878609-44878610	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12357238	chr10:44878611-44878612	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7088876	chr10:44878641-44878642	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs3780891	chr10:44878713-44878714	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527982982	chr10:44878733-44878734	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528819226	chr10:44878757-44878758	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372338092	chr10:44878763-44878764	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs60357795	chr10:44878792-44878793	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537655206	chr10:44878804-44878805	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7092453	chr10:44878832-44878833	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs17881284	chr10:44878835-44878836	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537979893	chr10:44878863-44878864	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189722138	chr10:44878871-44878872	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556209409	chr10:44878884-44878885	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568723242	chr10:44878918-44878919	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181203634	chr10:44878938-44878939	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59675227	chr10:44878958-44878959	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2483770	chr10:44878959-44878960	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74427555	chr10:44878966-44878967	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369217842	chr10:44878975-44878976	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2489240	chr10:44879000-44879001	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186957086	chr10:44879006-44879007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534085598	chr10:44879014-44879015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558304241	chr10:44879050-44879051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44860000-44879000	Weak transcription	Gastric	stomach
2	chr10:44866400-44878600	Weak transcription	Liver	Liver
3	chr10:44867000-44878200	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:44867600-44878600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:44869600-44878200	Weak transcription	Brain Substantia Nigra	brain
6	chr10:44874800-44879200	Weak transcription	Aorta	Aorta
7	chr10:44876000-44878600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:44876200-44878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:44876800-44878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:44877400-44878200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:44877400-44878400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:44877400-44879200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:44877400-44880400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr10:44877400-44880400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr10:44877600-44878200	Flanking Active TSS	Pancreas	Pancrea
16	chr10:44877600-44878400	Enhancers	Lung	lung
17	chr10:44877600-44878400	Flanking Active TSS	Osteobl	bone
18	chr10:44877600-44878600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr10:44877600-44878600	Active TSS	Duodenum Mucosa	Duodenum
20	chr10:44877600-44878600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr10:44877600-44878600	Active TSS	Fetal Brain Female	brain
22	chr10:44877600-44878800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:44877600-44878800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:44877600-44879200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:44877600-44879200	Active TSS	Colon Smooth Muscle	Colon
26	chr10:44877600-44879200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr10:44877600-44879600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr10:44877600-44880400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:44877600-44880800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr10:44877600-44881000	Bivalent/Poised TSS	Fetal Thymus	thymus
31	chr10:44877600-44881200	Active TSS	Rectal Smooth Muscle	rectum
32	chr10:44877600-44881200	Active TSS	Right Atrium	heart
33	chr10:44877800-44878200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:44877800-44878200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr10:44877800-44878200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:44877800-44878200	Active TSS	Stomach Smooth Muscle	stomach
37	chr10:44877800-44878400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:44877800-44878400	Active TSS	Right Ventricle	heart
39	chr10:44877800-44879000	Flanking Active TSS	Psoas Muscle	Psoas
40	chr10:44877800-44879200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:44877800-44879200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr10:44877800-44879200	Active TSS	Brain Cingulate Gyrus	brain
43	chr10:44877800-44879200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr10:44877800-44879400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr10:44877800-44879800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:44877800-44880800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr10:44877800-44881000	Active TSS	NHDF-Ad	bronchial
48	chr10:44877800-44881200	Active TSS	Left Ventricle	heart
49	chr10:44877800-44881400	Active TSS	Fetal Kidney	kidney
50	chr10:44878000-44878200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--

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